Citations for
1ARRB1, AVPR2
β-arrestin-dependent activation of the cofilin pathway is required for the scavenging activity of the atypical chemokine receptor D6.
Borroni EM, Cancellieri C, Vacchini A, Benureau Y, Lagane B, Bachelerie F, Arenzana-Seisdedos F, Mizuno K, Mantovani A, Bonecchi R, Locati M.
Sci Signal 6(273):ra30.1-11, S1-3. doi: 10.1126/scisignal.2003627. 2013
2ACKR2, ARRB1, AVPR2
Structure of active β-arrestin-1 bound to a G-protein-coupled receptor phosphopeptide.
Shukla AK, Manglik A, Kruse AC, Xiao K, Reis RI, Tseng WC, Staus DP, Hilger D, Uysal S, Huang LY, Paduch M, Tripathi-Shukla P, Koide A, Koide S, Weis WI, Kossiakoff AA, Kobilka BK, Lefkowitz RJ.
Nature 497(7447):137-41. doi: 10.1038/nature12120. Epub 2013 Apr 21. 2013
3AVPR2, DIR1
V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists.
Takahashi K, Makita N, Manaka K, Hisano M, Akioka Y, Miura K, Takubo N, Iida A, Ueda N, Hashimoto M, Fujita T, Igarashi T, Sekine T, Iiri T.
J Biol Chem 287(3):2099-106. Epub 2011 Dec 5. 2012
4ARHGAP4, AVPR2, DIR1
A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.
Huang L, Poke G, Gecz J, Gibson K.
Am J Med Genet A 158A(10):2511-8. doi: 10.1002/ajmg.a.35591. Epub 2012 Sep 10. 2012
5AVPR2, DIR1
A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus.
Huang L, Li W, Tang W, Lu G.
J Pediatr Endocrinol Metab 24(9-10):807-9. 2011
6AVPR2
Expression, purification and NMR characterization of the cyclic recombinant form of the third intracellular loop of the vasopressin type 2 receptor.
Bellot G, Pascal R, Mendre C, Urbach S, Mouillac B, Déméné H.
Protein Expr Purif 78(2):131-8. Epub 2011 May 14. 2011
7AVPR1A, AVPR2
The splice variant of the V2 vasopressin receptor adopts alternative topologies.
Gonzalez A, Borquez M, Trigo CA, Brenet M, Sarmiento JM, Figueroa CD, Navarro J, Gonzalez CB.
Biochemistry 50(22):4981-6. Epub 2011 May 11. 2011
8AVPR2, DIR2
Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.
Sahakitrungruang T, Tee MK, Rattanachartnarong N, Shotelersuk V, Suphapeetiporn K, Miller WL.
Horm Res Paediatr 73(5):349-54. Epub 2010 Apr 14. 2010
9AVPR2
Inhibition of NF-kappaB ameliorates sepsis-induced downregulation of aquaporin-2/V2 receptor expression and acute renal failure in vivo.
Höcherl K, Schmidt C, Kurt B, Bucher M.
Am J Physiol Renal Physiol 298(1):F196-204. Epub 2009 Oct 14. 2010
10AQP2, AVPR2
Expression of aquaporins and vasopressin type 2 receptor in the stria vascularis of the cochlea.
Nishioka R, Takeda T, Kakigi A, Okada T, Takebayashi S, Taguchi D, Nishimura M, Hyodo M.
Hear Res 260(1-2):11-9. Epub 2009 Sep 29. 2010
11AQP2, AVP, AVPR2
Reciprocal regulation of aquaporin-2 abundance and degradation by protein kinase A and p38-MAP kinase.
Nedvetsky PI, Tabor V, Tamma G, Beulshausen S, Skroblin P, Kirschner A, Mutig K, Boltzen M, Petrucci O, Vossenkämper A, Wiesner B, Bachmann S, Rosenthal W, Klussmann E.
J Am Soc Nephrol 21(10):1645-56. Epub 2010 Aug 19. 2010
12AVPR2
Involvement of the V2 vasopressin receptor in adaptation to limited water supply.
Böselt I, Römpler H, Hermsdorf T, Thor D, Busch W, Schulz A, Schöneberg T.
PLoS One 4(5):e5573. Epub 2009 May 18. 2009
13AVPR2
VRQ397 (CRAVKY): a novel noncompetitive V2 receptor antagonist.
Rihakova L, Quiniou C, Hamdan FF, Kaul R, Brault S, Hou X, Lahaie I, Sapieha P, Hamel D, Shao Z, Gobeil F Jr, Hardy P, Joyal JS, Nedev H, Duhamel F, Beauregard K, Heveker N, Saragovi HU, Guillon G, Bouvier M, Lubell WD, Chemtob S.
Am J Physiol Regul Integr Comp Physiol 297(4):R1009-18. Epub 2009 Jul 29. 2009
14AVPR2
Vasopressin receptor-mediated functional signaling pathway in primary cilia of renal epithelial cells.
Raychowdhury MK, Ramos AJ, Zhang P, McLaughin M, Dai XQ, Chen XZ, Montalbetti N, Del Rocío Cantero M, Ausiello DA, Cantiello HF.
Am J Physiol Renal Physiol 296(1):F87-97. Epub 2008 Oct 22. 2009
15ARHGAP4, AVPR2, DIR1, HSAS, L1CAM
Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.
Knops NB, Bos KK, Kerstjens M, van Dael K, Vos YJ.
Am J Med Genet A 146A(14):1853-8. 2008
16AVPR2
Meniere's attacks occur in the inner ear with excessive vasopressin type-2 receptors.
Kitahara T, Doi K, Maekawa C, Kizawa K, Horii A, Kubo T, Kiyama H.
J Neuroendocrinol 20(12):1295-300. 2008
17AVPR2, SIADH
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E, Milord E, Gragnoli C.
J Cell Physiol 217(3):605-17. Review. 2008
18AVPR1A, AVPR2
Regulation of V2R transcription by hypertonicity and V1aR-V2R signal interaction.
Izumi Y, Nakayama Y, Memetimin H, Inoue T, Kohda Y, Nonoguchi H, Tomita K.
Am J Physiol Renal Physiol 295(4):F1170-6. Epub 2008 Aug 13. 2008
19DIR1, L1CAM, AVPR2, HSAS
Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus.
Tegay DH, Lane AH, Roohi J, Hatchwell E.
Am J Med Genet A 143(6):594-8. 2007
20AVPR2, DIR1
Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus.
Kotnik P, Battelino T, Debeljak M, Podkrajsek KT, Waldhauser F, Frøkiaer J, Nielsen S, Krzisnik C.
J Pediatr Endocrinol Metab 20(4):483-9. 2007
21AVPR2, SIADH
Nephrogenic syndrome of inappropriate antidiuresis in adults: high phenotypic variability in men and women from a large pedigree.
Decaux G, Vandergheynst F, Bouko Y, Parma J, Vassart G, Vilain C.
J Am Soc Nephrol 18(2):606-12. Epub 2007 Jan 17. 2007
22AQP2, AVPR2, DIR1
Nephrogenic diabetes insipidus.
Bichet DG.
Adv Chronic Kidney Dis 13(2):96-104. Review. 2006
23ARHGAP4, AVPR2, DIR1, NAA10
Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region.
Broides A, Ault BH, Arthus MF, Bichet DG, Conley ME.
Clin Immunol 120(2):147-55. Epub 2006 Jun 15. 2006
24ARHGAP4, AVPR2, DIR1
Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
Demura M, Takeda Y, Yoneda T, Furukawa K, Usukura M, Itoh Y, Mabuchi H.
Hum Mutat 19(1):23-9. 2002
25AVPR2, DIR1
Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
Chen CH, Chen WY, Liu HL, Liu TT, Tsou AP, Lin CY, Chao T, Qi Y, Hsiao KJ.
J Hum Genet 47(2):66-73. 2002
26AVPR2
Identification of a short cis-acting element in the human vasopressin type 2 receptor gene which confers high-level expression of a reporter gene specifically in collecting duct cells.
Calmont A, Reichwald K, Ronco P, Rossert J.
Mol Endocrinol 14(10):1682-95. 2000
27AQP2, AVPR2, DIR1, DIR2
Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.
Rocha JL, et al.
Hum Mutat 14(3):233-239 1999
28AVPR2, DIR1
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.
Schšneberg T, et al.
Hum Mutat 12 : 196-205. 1998
29AVPR2, DIR1
Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.
Cheong HI, et al.
Nephron 75 : 431-437. 1997
30AVPR2, DIR1
An X-linked NDI mutation reveals a requirement for cell surface V2R expression.
Sadeghi HM, Innamorati G, Birnbaumer M.
Mol Endocrinol 11(6):706-13. 1997
31AQP2, AVPR2
Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.
Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Dechaux M, Antignac C.
J Am Soc Nephrol 8(12):1855-62. 1997
32AVPR2, DIR1
Functional characterization of five V2 vasopressin receptor gene mutations.
Wenkert D, et al.
Mol Cell Endocrinol 124 : 43-50. 1996
33DIR1, AVPR2
Binding-, intracellular transport-, and bioosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.
Tsukaguchi H, et al.
J Clin Invest 96 : 2043-2050. 1995
34DIR1, AVPR2
Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation.
van Lieburg AF, et al.
Hum Genet 96 : 70-78. 1995
35AVPR2
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.
Wildin RS, et al.
Am J Hum Genet 55 : 266-277. 1994
36AVPR2
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
Bichet DG, et al.
Am J Hum Genet 55 : 278-286. 1994
37AVPR2, DIR1
Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.
Wenkert D, et al.
Hum Mol Genet 3 : 1429-1430. 1994
38DIR1, AVPR2
Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.
Faa V, et al.
Hum Mol Genet 3 : 1685-1886. 1994
39AVPR2, DIR1
Nephrogenic diabetes insipidus : an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.
Friedman E, et al.
Proc Natl Acad Sci U S A 91 : 8457-8461. 1994
40DIR1, AVPR2
Identification of eight new mutations in familial neurogenic diabetes insipidus supports the concept that defective folding of the mutant provasopressin-neurophysin causes the disease. (abstr)
Rittig S, et al.
Am J Hum Genet 55 : A239. 1994
41AVPR2
Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus.
Oksche A, et al.
Biochem Biophys Res Commun 205 : 552-557. 1994
42AVPR2,DIR1
Two novel mutations in the vasopressin V2 receptor gene in unrelated japanese kindreds with nephrogenic diabetes insipidus.
Tsukaguchi H, et al.
Biochem Biophys Res Commun 197 : 1000-1010. 1993
43AVPR2, DIR1
A molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus.
Holtzman EJ, et al.
N Engl J Med 328 : 1534-1537. 1993
44AVPR2, DIR1
A mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus.
Merendino JJ, et al.
N Engl J Med 328 : 1538-1541. 1993
45AVPR2
Comparative mapping on the mouse and human X chromosomes of a human cDNA clone encoding the vasopressin renal-type receptor (AVP2R).
Faust CJ, et al.
Genomics 15 : 439-441. 1993
46AVPR2, DIR1
A null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the hopewell kindred.
Holtzman EJ, et al.
Hum Mol Genet 2 : 1201-1204. 1993
47AVPR2
Type 2 vasopressin receptor gene, the gene responsible for nephrogenic diabetes insipidus, maps to Xq28 close to the licam gene.
Frattini A, et al.
Biochem Biophys Res Commun 193 : 864-871. 1993
48AVPR2, DIR1
Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase.
Rosenthal W, et al.
J Biol Chem 268 : 13030-13033. 1993
49AVPR2
A polymorphism in the coding region of the vasopressin type 2 receptor (AVPR2) gene.
Friedman E, et al.
Hum Mol Genet 2 : 1746. 1993
50DIR1, AVPR2
Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region.
van den Ouweland AMW, et al.
Genomics 13 : 1350-1352. 1992
51DIR1, AVPR2
Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus.
Rosenthal W, et al.
Nature 359 : 233-235. 1992
52DIR1, AVPR2
A single base substitution in exon 1 of the vasopressin-neurophysin II gene is linked to familial neurogenic diabetes insipidus in a Caucasian kindred.
Kovacs L, et al.
Am J Hum Genet 51 : A30. 1992
53DIR1, AVPR2
Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.
Pan Y, et al.
Nat Genet 2 : 103-106. 1992
54DIR1, AVPR2
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.
Van den Ouweland AMW, et al.
Nat Genet 2 : 99-102. 1992
55AVPR2
Structure and chromosomal localization of the human antidiuretic hormone receptor gene.
Seibold A, et al.
Am J Hum Genet 51 : 1078-1083. 1992
56AVPR2
Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus.
Lolait SJ, O'Carroll AM, McBride OW, Konig M, Morel A, Brownstein MJ.
Nature 357(6376):336-9. 1992